Varaico: Literature-Extracted Genetic Variants

BRCA1

8,702 papers

RefSeq Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of ...

Pfam Domains

zf-RING_UBOXaa 24–52UCSCRING-type zinc-finger

zf-C3HC4aa 24–64UCSCZinc finger, C3HC4 type (RING finger)

BRCT_assocaa 345–508UCSCSerine-rich domain associated with BRCT

BRCTaa 1642–1723UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 1756–1842UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

BRCA1 DNA repair associated

HGNC Alias Symbols

RNF53; BRCC1; PPP1R53; FANCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007294.4

p.V1713_F1717del5

c.5137_5150del15

Surrounding Variants

6 papers

NM_007294.4

p.W1718G

c.5152T>G

6 papers

NM_007294.4

p.W1718R

c.5152T>C

2 papers

NM_007294.4

p.W1718R

c.5152T>A

1 paper

NM_007297.4

p.S1668_F1670del3

c.5002_5009del9

1 paper

NM_007297.4

p.G1659_F1670del12

c.4975_5009del36

30 papers

NM_007294.4

p.W1718Splc

c.5152+1G>T

NM_007300.4

p.W1739Splc

c.5215+1G>T

31 papers

NM_007294.4

p.W1718Splc

c.5152+1G>C

26 papers

NM_007294.4

p.W1718Splc

c.5152+1G>A

NM_007300.4

p.W1739Splc

c.5215+1G>A

1 paper

NM_007294.4

p.F1717_W1718delFs

c.5149_5152del4

4 papers

NM_007294.4

p.F1717L

c.5151C>G

4 papers

NM_007294.4

p.F1717L

c.5151C>A

5 papers

NM_007294.4

p.Y1716delFs

c.5148delA